R30C (p.Arg30Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R30C (p.Arg30Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- 1000Genomes rs368524604
- ESP rs368524604
- ExAC rs368524604
- TOPMed rs368524604
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available